What is Hemophilia

Hemophilia is a type of bleeding disorder that causes the blood to take a long time to clot. This can cause abnormal bleeding, or bleeding that won't stop. People with hemophilia have too little—or even none—of a protein in the blood called clotting factor. Hemophilia most often affects males and, in most cases, is inherited (passed down through families).

Originally, hemophilia was thought to be a single disease. In the 1950s, health care providers discovered that there are actually two forms of the disease: hemophilia A and hemophilia B. Because of this, each disease is treated with its own specific factor replacement medication.

HEMOPHILIA A & B: The basics

WHAT IS HEMOPHILIA A OR FACTOR VIII DEFICIENCY?

Hemophilia A is the most common form of hemophilia, occurring in about 1 in every 10,000 males. People with hemophilia A, also called "classic hemophilia," have a deficiency in clotting factor VIII, meaning that clotting factor VIII is either missing or is present at a low level.

Classification

Hemophilia severity	Factor VIII/IX level
Mild	More than 5% of normal
Moderate	1% to 5% of normal
Severe	Less than 1% of normal

Hemophilia is classified as mild, moderate, or severe, depending on the level of clotting factor in the blood. While more severe hemophilia is usually diagnosed during infancy, a mild form may not be diagnosed until adulthood.

People without hemophilia normally have a range of factor VIII or IX that varies from 50% to 150%.

WHAT IS HEMOPHILIA B OR FACTOR IX DEFICIENCY?

People with hemophilia B have a deficiency in clotting factor IX. Hemophilia B is sometimes called Christmas disease after Stephen Christmas, the first patient described with this disease. It is the second most common form of hemophilia, occurring in about 1 in 20,000-50,000 people.

Diagnosis of Hemophilia

There are special blood tests used to diagnose hemophilia. Although there is not yet a cure for hemophilia, living easily with hemophilia is now possible with the advent of clotting factor concentrates that can be infused even at home.

Treatment

The treatment of hemophilia involves the intravenous injection of clotting factor for acute bleeding or for prevention of bleeding. For adults and children who bleed frequently, prophylaxis is strongly recommended as it reduces or eliminates orthopedic problems, days missed from work and improves quality of life. For those who bleed less frequently, the replacement of clotting factor is given only for acute bleeds.

Treatment is aimed at replacing the deficient clotting factor. This involves intravenous injections of concentrates containing the needed factor. Many patients are on a home infusion program whereby they self-infuse the clotting factor concentrate when they bleed or administer it regularly to prevent bleeding. This ensures prompt treatment and gives them greater independence and more control over managing their disorder.